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Newer diarrheal syndromes.

A Sawczenko¹, B K Sandhu

¹Royal Hospital for Sick Children, St Michael's Hill, Bristol, UK.

Indian Journal of Pediatrics

|January 2, 2001

Summary

Diagnosing protracted diarrhea is challenging, with many cases remaining idiopathic. Newer syndromes like microvillous inclusion disease and autoimmune enteropathy are identified, requiring thorough investigation and genetic counseling due to poor prognosis.

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Area of Science:

Pediatric Gastroenterology
Clinical Genetics
Immunology

Background:

Protracted diarrhea diagnosis remains elusive in up to 30% of cases despite extensive investigations.
Several newer syndromes, including microvillous inclusion disease, tufting enteropathy, epithelial dysplasia, autoimmune enteropathy, and syndromic immunodeficiency, are recognized within the idiopathic group.

Purpose of the Study:

To review the molecular basis and functional defects of rare pediatric protracted diarrhea syndromes.
To guide clinicians in the diagnostic approach and management of these complex conditions.

Main Methods:

Review of existing literature on idiopathic protracted diarrhea syndromes.
Emphasis on clinical history (antenatal, family, consanguinity), extra-intestinal manifestations, auto-antibodies, and phenotypic abnormalities.
Diagnostic role of light and electron microscopy of small and large bowel biopsies, including PAS staining for microvillous inclusion disease.

Main Results:

The molecular basis and functional defects are characterized in only a small subset of patients.
Microvillous inclusion disease can often be suspected with PAS staining.
Microscopic colitis may necessitate large bowel biopsy for exclusion.

Conclusions:

The prognosis for these protracted diarrhea syndromes is poor, with a 50-85% mortality rate.
Genetic counseling is a critical component of clinical management.
While gut transplantation is a reported option, early diagnosis and genetic insights are paramount.

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